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Journal Abstract Search

129 related items for PubMed ID: 36640472

  • 1. IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type).
    De Kinderen P, Peeters S, Rabaut L, Mortier G, Ponsaerts P, Loeys B, Verstraeten A, Meester JAN.
    Stem Cell Res; 2023 Mar; 67():103024. PubMed ID: 36640472
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  • 2. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
    Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK.
    Am J Hum Genet; 2016 Jun 02; 98(6):1243-1248. PubMed ID: 27236923
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  • 3. IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC).
    De Kinderen P, Rabaut L, Perik MHAM, Peeters S, Ponsaerts P, Loeys B, Mortier G, Meester JAN, Verstraeten A.
    Stem Cell Res; 2023 Jun 02; 69():103080. PubMed ID: 36966641
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  • 5. MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
    Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV.
    J Clin Invest; 2005 Oct 02; 115(10):2832-42. PubMed ID: 16167086
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  • 7. Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
    Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon YU, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier-Daire V, Kim OH, Forlino A, Cho TJ, Mäkitie O.
    J Bone Miner Res; 2021 Feb 02; 36(2):283-297. PubMed ID: 32916022
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  • 12. Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.
    Aagaard Nolting L, Holling T, Nishimura G, Ek J, Bak M, Ljungberg M, Kutsche K, Hove H.
    Clin Genet; 2024 Sep 02; 106(3):360-366. PubMed ID: 38801004
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  • 15. Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.
    Uzman CY, Çankaya T, Güleryüz H, Ülgenalp A, Bozkaya ÖG.
    Skeletal Radiol; 2023 Jan 02; 52(1):115-118. PubMed ID: 35776137
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  • 17. Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
    Grosch M, Grüner B, Spranger S, Stütz AM, Rausch T, Korbel JO, Seelow D, Nürnberg P, Sticht H, Lausch E, Zabel B, Winterpacht A, Tagariello A.
    Matrix Biol; 2013 Jan 02; 32(7-8):387-92. PubMed ID: 23665482
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  • 18. Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.
    Singh S, Shah H, Dalal A, Shukla A, Bhavani GS, Girisha KM.
    Am J Med Genet A; 2024 Aug 02; 194(8):e63601. PubMed ID: 38562122
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